Diffuse midline glioma with novel, potentially targetable, FGFR2–VPS35 fusion
| Autor: | Matija Snuderl, Danielle Pendrick, Susan J. Hsiao, Kevin A. Roth, Benjamin Liechty, Olga Krasnozhen-Ratush, Jeffrey C. Allen, James Garvin, George Zanazzi, Mahesh Mansukhani |
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| Rok vydání: | 2020 |
| Předmět: |
Male
Vesicular Transport Proteins Biology Histone H3 Exon Glioma Exome Sequencing Gene duplication medicine Humans Receptor Fibroblast Growth Factor Type 2 Child In Situ Hybridization Fluorescence neoplasm of the central nervous system medicine.diagnostic_test Brain Neoplasms Cancer General Medicine medicine.disease Fibroblast growth factor receptor Mutation DNA methylation Cancer research Rapid Cancer Communication Fluorescence in situ hybridization |
| Zdroj: | Cold Spring Harbor Molecular Case Studies |
| ISSN: | 2373-2873 2373-2865 |
| DOI: | 10.1101/mcs.a005660 |
| Popis: | We report a case of a slow-growing, diffuse, infiltrating glioma in the right brainstem of a 9-yr-old boy. The tumor was negative by immunohistochemical staining for histone H3 K27M, BRAF V600E, and IDH1 R132H mutations. Fluorescence in situ hybridization did not reveal a BRAF duplication. Genomic profiling of the tumor, by DNA methylation array and cancer whole-exome and transcriptome sequencing, was performed. This analysis showed copy-number alterations, including gains of several chromosomes. In addition, a novel fusion involving the first 17 exons of FGFR2 fused to exon 2 of VPS35 was identified. This novel fusion is predicted to result in activation of fibroblast growth factor receptor (FGFR) signaling and is potentially targetable using FGFR inhibitors. This tumor expands the spectrum of pediatric diffuse gliomas. |
| Databáze: | OpenAIRE |
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